| Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature. | |
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MedLine Citation:
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PMID: 1605246 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Restrictive dermopathy is a rare, lethal autosomal recessive syndrome. We report on 3 unrelated affected stillborn infants of consanguineous parents. Clinical findings include a tight, thin, translucent, taut skin, which tears spontaneously in flexion creases, arthrogryposis multiplex congenita (including the temporomandibular joint), enlarged fontanelles, typical face and dysplasia of clavicles and long bones. Histologic abnormalities include hyperplastic, abnormally keratinized epidermis, reduced tonofilaments, thin, compact dermis with hypoplasia of the elastic fibres, and abnormal subcutaneous fat. Fifteen previous cases are reviewed. |
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Authors:
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A Verloes; N Mulliez; M Gonzales; F Laloux; T Hermanns-Lê; G E Piérard; L Koulischer |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 43 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1992 Jun |
Date Detail:
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Created Date: 1992-07-16 Completed Date: 1992-07-16 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 539-47 Citation Subset: IM |
Affiliation:
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Centre for Human Genetics, Liège University, Belgium. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple* Arthrogryposis* / genetics Biopsy Bone Diseases, Developmental* / genetics, radiography Face / abnormalities Female Humans Infant, Newborn Male Polyhydramnios Skin Abnormalities* Syndrome |
| Comments/Corrections | |
Comment In:
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Am J Med Genet. 1993 Dec 1;47(8):1235-7
[PMID:
8291564
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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